PLPP1 phospholipid phosphatase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLPP1provided by HGNC
Official Full Name: phospholipid phosphatase 1provided by HGNC
Primary source: HGNC:HGNC:9228
See related: Ensembl:ENSG00000067113 MIM:607124; AllianceGenome:HGNC:9228
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LPP1; PAP2; LLP1a; PAP-2a; PPAP2A
Summary: The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
Expression: Broad expression in prostate (RPKM 96.2), gall bladder (RPKM 74.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (55424854..55534964, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (56252163..56362555, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (54720682..54830792, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the first of the two transmembrane regions in human SAC1 (TM1) functions in Golgi localization
Title: The first transmembrane domain of lipid phosphatase SAC1 promotes Golgi localization.
Phosphorylation of lipin 1 and charge on the phosphatidic acid head group control its phosphatidic acid phosphatase activity and membrane association
Title: Phosphorylation of lipin 1 and charge on the phosphatidic acid head group control its phosphatidic acid phosphatase activity and membrane association.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These results suggest that LPP1a is important for the determination of plasma FTY720-P levels.
Title: A splicing isoform of LPP1, LPP1a, exhibits high phosphatase activity toward FTY720 phosphate.
Lipopolysaccharide-induced up-regulation of cyclooxygenase-2 depends on the activity of the Mg(+2)-dependent phosphatidic acid phosphohydrolase 1 (PAP-1)
Title: Lipopolysaccharide-induced cyclooxygenase-2 expression in human U937 macrophages is phosphatidic acid phosphohydrolase-1-dependent.
This protein and phosphoprotein SET regulate androgen production by P450c17.
Title: Protein phosphatase 2A and phosphoprotein SET regulate androgen production by P450c17.
These results suggest that the expression of PAP2a is directly regulated by p73.
Title: The expression of phosphatidic acid phosphatase 2a, which hydrolyzes lipids to generate diacylglycerol, is regulated by p73, a member of the p53 family.
this enzyme regulates interleukin-4-mediated STAT6 signaling.
Title: Protein phosphatase 2A (PP2A) regulates interleukin-4-mediated STAT6 signaling.
lipid phosphate phosphatase-1 has a role in regulating accumulation of lysophosphatidic acid in ovarian cancer
Title: Role of decreased levels of lipid phosphate phosphatase-1 in accumulation of lysophosphatidic acid in ovarian cancer.
LPP1 and LPP3 are distributed in distinct lipid rafts that may provide unique microenvironments defining their non-redundant physiological functions.
Title: Lipid phosphate phosphatases 1 and 3 are localized in distinct lipid rafts.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

WI-15758 (e-PCR)
- UniSTS:63537

NoName (e-PCR)
- UniSTS:483696

D15S1477 (e-PCR)
- UniSTS:474482

D5S2546 (e-PCR)
- UniSTS:69509

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ceramide-1-phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables diacylglycerol diphosphate phosphatase activity	ISS Inferred from Sequence or Structural Similarity more info
enables lipid phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables lysophosphatidic acid phosphatase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidate phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidate phosphatase activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sphingosine-1-phosphate phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables sphingosine-1-phosphate phosphatase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in androgen receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in ceramide metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in nuclear receptor-mediated steroid hormone signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in phospholipid dephosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid dephosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid dephosphorylation	TAS Traceable Author Statement more info	PubMed
involved_in phospholipid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sphingolipid catabolic process	TAS Traceable Author Statement more info
involved_in sphingosine metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: phospholipid phosphatase 1

Names: lipid phosphate phosphohydrolase 1a; phosphatidate phosphohydrolase type 2a; phosphatidic acid phosphatase 2a; phosphatidic acid phosphatase type 2A; phosphatidic acid phosphohydrolase type 2a; type-2 phosphatidic acid phosphatase alpha

NP_003702.2

EC 3.1.3.106

EC 3.1.3.4

EC 3.6.1.75

NP_795714.1

EC 3.1.3.106

EC 3.1.3.4

EC 3.6.1.75

XP_006714787.1

EC 3.1.3.106

EC 3.1.3.4

EC 3.6.1.75

XP_054209713.1

EC 3.1.3.106

EC 3.1.3.4

EC 3.6.1.75

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003711.4 → NP_003702.2 phospholipid phosphatase 1 isoform 1

See identical proteins and their annotated locations for NP_003702.2

Status: REVIEWED

Description

Transcript Variant: This variant (1, also named PAP2-a1) lacks an alternate exon and contains an in-frame alternate exon in the 5' coding region, compared to variant 2. The resulting isoform (1) contains a distinct internal segment and is shorter, compared to isoform 2.

Source sequence(s)

AF014402, BC008787, BC039847, BC143281

Consensus CDS

CCDS34159.1

UniProtKB/Swiss-Prot

B7ZKN8, G3XA95, O14494, O60457, O60463, Q17RZ4

Related

ENSP00000302229.8, ENST00000307259.9

Conserved Domains (1) summary

cd03384
Location:98 → 243

PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...
NM_176895.3 → NP_795714.1 phospholipid phosphatase 1 isoform 2

See identical proteins and their annotated locations for NP_795714.1

Status: REVIEWED

Description

Transcript Variant: This variant (2, also named PAP2-a2) encodes the longer isoform (2).

Source sequence(s)

AF014403, BC008787, BC039847, BC168254

Consensus CDS

CCDS34160.1

Related

ENSP00000264775.5, ENST00000264775.9

Conserved Domains (1) summary

cd03384
Location:99 → 244

PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...

RNA

NR_103485.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate exon in the 5' region compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF014402, BC008787, BC039847, BC168254

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

55424854..55534964 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006714724.4 → XP_006714787.1 phospholipid phosphatase 1 isoform X1

Conserved Domains (1) summary

cd03384
Location:35 → 180

PAP2_wunen; PAP2, wunen subfamily. Most likely a family of membrane associated phosphatidic acid phosphatases. Wunen is a drosophila protein expressed in the central nervous system, which provides repellent activity towards primordial germ cells (PGCs), controls the ...